From HPO
Gastrostomy tube feeding in infancy- MedGen UID:
- 892362
- •Concept ID:
- C4023342
- •
- Finding
Feeding problem necessitating gastrostomy tube feeding.
Clonus- MedGen UID:
- 40341
- •Concept ID:
- C0009024
- •
- Sign or Symptom
A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Developmental regression- MedGen UID:
- 324613
- •Concept ID:
- C1836830
- •
- Disease or Syndrome
Loss of developmental skills, as manifested by loss of developmental milestones.
Diffuse cerebellar atrophy- MedGen UID:
- 343184
- •Concept ID:
- C1854699
- •
- Finding
Diffuse unlocalised atrophy affecting the cerebellum.
Appendicular spasticity- MedGen UID:
- 937224
- •Concept ID:
- C4313257
- •
- Finding
A type of spasticity that affects one or more limbs (arms or legs).
Thin corpus callosum- MedGen UID:
- 1785336
- •Concept ID:
- C5441562
- •
- Anatomical Abnormality
An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).
Poor head control- MedGen UID:
- 322809
- •Concept ID:
- C1836038
- •
- Finding
Difficulty to maintain correct position of the head while standing or sitting.
Axial hypotonia- MedGen UID:
- 342959
- •Concept ID:
- C1853743
- •
- Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Limb joint contracture- MedGen UID:
- 369611
- •Concept ID:
- C1969879
- •
- Anatomical Abnormality
A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.
Type II transferrin isoform profile- MedGen UID:
- 892666
- •Concept ID:
- C4021094
- •
- Finding
Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system